Canonical Allele Identifier: CA562026893

Gene: TMEM232

Linked Data

• dbSNP Id: rs1173195904
• gnomAD v2: 5-109826289-A-C
• gnomAD v3: 5-110490588-A-C
• gnomAD v4: 5-110490588-A-C
• MyVariant Identifiers: chr5:g.109826289A>C (hg19) ; chr5:g.110490588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110490588A>C , CM000667.2:g.110490588A>C	GRCh38
NC_000005.9:g.109826289A>C , CM000667.1:g.109826289A>C	GRCh37
NC_000005.8:g.109854188A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455884.7:c.1703+38000T>G MANE Select	ENSP00000401477.2:n.1703+38000T>G
ENST00000455884.6:c.1703+38000T>G	ENSP00000401477.2:n.1703+38000T>G
ENST00000508571.6:n.1018+77859T>G
ENST00000512003.7:c.*998-65672T>G	ENSP00000427785.2:n.*998-65672T>G
ENST00000515518.6:n.1376-65672T>G
NM_001039763.3:c.1703+38000T>G	NP_001034852.3:n.1703+38000T>G
XM_006714670.2:c.1703+38000T>G	XP_006714733.1:n.1703+38000T>G
XM_011543552.1:c.1703+38000T>G	XP_011541854.1:n.1703+38000T>G
XM_011543553.1:c.1703+38000T>G	XP_011541855.1:n.1703+38000T>G
XM_011543554.1:c.1703+38000T>G	XP_011541856.1:n.1703+38000T>G
XM_011543555.1:c.1646+38000T>G	XP_011541857.1:n.1646+38000T>G
XM_011543556.1:c.1646+38000T>G	XP_011541858.1:n.1646+38000T>G
XM_011543559.1:c.1704-13270T>G	XP_011541861.1:n.1704-13270T>G
XM_011543560.1:c.1349+38000T>G	XP_011541862.1:n.1349+38000T>G
XM_011543564.1:c.1456-65672T>G	XP_011541866.1:n.1456-65672T>G
XM_011543565.1:c.1456-75939T>G	XP_011541867.1:n.1456-75939T>G
XM_011543566.1:c.1205+38000T>G	XP_011541868.1:n.1205+38000T>G
XM_011543568.1:c.1102-65672T>G	XP_011541870.1:n.1102-65672T>G
XM_011543569.1:c.824+38000T>G	XP_011541871.1:n.824+38000T>G
XR_948284.1:n.2551+38000T>G
XR_948285.1:n.2304-60487T>G
XR_948286.1:n.2403+17024T>G
XR_948287.1:n.2302+77859T>G
XM_006714670.3:c.1703+38000T>G	XP_006714733.1:n.1703+38000T>G
XM_011543552.2:c.1703+38000T>G	XP_011541854.1:n.1703+38000T>G
XM_011543553.2:c.1703+38000T>G	XP_011541855.1:n.1703+38000T>G
XM_011543555.2:c.1646+38000T>G	XP_011541857.1:n.1646+38000T>G
XM_011543556.2:c.1646+38000T>G	XP_011541858.1:n.1646+38000T>G
XM_011543559.2:c.1704-13270T>G	XP_011541861.1:n.1704-13270T>G
XM_011543560.2:c.1349+38000T>G	XP_011541862.1:n.1349+38000T>G
XM_011543564.3:c.1456-65672T>G	XP_011541866.1:n.1456-65672T>G
XM_011543565.3:c.1456-75939T>G	XP_011541867.1:n.1456-75939T>G
XM_011543566.2:c.1205+38000T>G	XP_011541868.1:n.1205+38000T>G
XM_017009707.1:c.1205+38000T>G	XP_016865196.1:n.1205+38000T>G
XM_024446149.1:c.1456-65672T>G	XP_024301917.1:n.1456-65672T>G
XR_001742181.1:n.2565+38000T>G
XR_001742182.1:n.2316+77859T>G
XR_948284.2:n.2566+38000T>G
XR_948285.2:n.2318-60487T>G
XR_948287.2:n.2316+77859T>G
NM_001039763.4:c.1703+38000T>G MANE Select	NP_001034852.3:n.1703+38000T>G