Canonical Allele Identifier: CA9672817

Gene: TMEM150B

Linked Data

• dbSNP Id: rs7246479
• ExAC: 19:55824332 T / C
• gnomAD v2: 19-55824332-T-C
• gnomAD v3: 19-55312964-T-C
• gnomAD v4: 19-55312964-T-C
• MyVariant Identifiers: chr19:g.55824332T>C (hg19) ; chr19:g.55312964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55312964T>C , CM000681.2:g.55312964T>C	GRCh38
NC_000019.9:g.55824332T>C , CM000681.1:g.55824332T>C	GRCh37
NC_000019.8:g.60516144T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326652.9:c.597A>G MANE Select	ENSP00000320757.4:p.Leu199=
ENST00000326652.8:c.597A>G	ENSP00000320757.4:p.Leu199=
ENST00000586609.5:c.*337A>G	ENSP00000466957.1:n.*337A>G
ENST00000592603.5:c.*337A>G	ENSP00000468745.1:n.*337A>G
NM_001085488.2:c.597A>G	NP_001078957.1:p.Leu199=
NM_001282011.1:c.597A>G	NP_001268940.1:p.Leu199=
NR_104066.1:n.751A>G
NR_104071.1:n.702A>G
XM_005258812.2:c.597A>G	XP_005258869.1:p.Leu199=
XM_011526850.1:c.506-2669A>G	XP_011525152.1:n.506-2669A>G
XM_011526852.1:c.597A>G	XP_011525154.1:p.Leu199=
XM_011526853.1:c.597A>G	XP_011525155.1:p.Leu199=
XM_011526854.1:c.597A>G	XP_011525156.1:p.Leu199=
XM_011526855.1:c.597A>G	XP_011525157.1:p.Leu199=
XM_011526856.1:c.597A>G	XP_011525158.1:p.Leu199=
XM_011526857.1:c.417A>G	XP_011525159.1:p.Leu139=
XM_005258812.4:c.597A>G	XP_005258869.1:p.Leu199=
XM_011526850.3:c.506-2669A>G	XP_011525152.1:n.506-2669A>G
XM_011526852.3:c.597A>G	XP_011525154.1:p.Leu199=
XM_011526853.2:c.597A>G	XP_011525155.1:p.Leu199=
XM_011526854.3:c.597A>G	XP_011525156.1:p.Leu199=
XM_011526855.3:c.597A>G	XP_011525157.1:p.Leu199=
XM_011526856.3:c.597A>G	XP_011525158.1:p.Leu199=
XM_011526857.2:c.417A>G	XP_011525159.1:p.Leu139=
XM_017026667.2:c.597A>G	XP_016882156.1:p.Leu199=
XM_017026668.1:c.417A>G	XP_016882157.1:p.Leu139=
NM_001085488.3:c.597A>G	NP_001078957.1:p.Leu199=
NM_001282011.2:c.597A>G MANE Select	NP_001268940.1:p.Leu199=
NR_104066.2:n.752A>G
NR_104071.2:n.703A>G