Canonical Allele Identifier: CA360809937

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393771-C-T
• MyVariant Identifiers: chr5:g.131729463C>T (hg19) ; chr5:g.132393771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393771C>T , CM000667.2:g.132393771C>T	GRCh38
NC_000005.9:g.131729463C>T , CM000667.1:g.131729463C>T	GRCh37
NC_000005.8:g.131757362C>T	NCBI36
NG_008982.1:g.29063C>T
NG_008982.2:g.29068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-414C>T	ENSP00000388838.2:n.1292-414C>T
ENST00000435065.7:c.1618C>T	ENSP00000402760.2:p.Pro540Ser
ENST00000448810.6:c.*398C>T	ENSP00000401860.2:n.*398C>T
ENST00000685543.1:n.1687C>T
ENST00000686757.1:c.*710C>T	ENSP00000510721.1:n.*710C>T
ENST00000686868.1:n.538C>T
ENST00000687740.1:n.4231C>T
ENST00000688151.1:n.2856C>T
ENST00000689271.1:c.1393C>T	ENSP00000510797.1:p.Pro465Ser
ENST00000690900.1:c.*710C>T	ENSP00000510703.1:n.*710C>T
ENST00000692212.1:n.4686C>T
ENST00000692355.1:c.799C>T
ENST00000692413.1:c.1528C>T	ENSP00000509374.1:p.Pro510Ser
ENST00000692825.1:c.1614C>T	ENSP00000509447.1:n.1614C>T
ENST00000693308.1:c.1594C>T	ENSP00000509770.1:p.Pro532Ser
ENST00000693763.1:n.2706C>T
ENST00000245407.8:c.1546C>T MANE Select	ENSP00000245407.3:p.Pro516Ser
ENST00000245407.7:c.1546C>T	ENSP00000245407.3:p.Pro516Ser
ENST00000435065.6:c.1618C>T	ENSP00000402760.2:p.Pro540Ser
ENST00000447841.5:c.390C>T
ENST00000448810.5:c.808C>T
ENST00000461013.5:n.8968C>T
ENST00000475308.1:n.2224C>T
NM_001308122.1:c.1618C>T	NP_001295051.1:p.Pro540Ser
NM_003060.3:c.1546C>T	NP_003051.1:p.Pro516Ser
XM_011543590.1:c.928C>T	XP_011541892.1:p.Pro310Ser
XR_948290.1:n.1672C>T
XM_011543590.2:c.928C>T	XP_011541892.1:p.Pro310Ser
XM_017009778.2:c.1018C>T	XP_016865267.1:p.Pro340Ser
XR_001742215.1:n.1801C>T
XR_001742216.1:n.1820C>T
XR_427718.2:n.1906C>T
XR_948290.2:n.1672C>T
XR_948291.2:n.1900C>T
NM_003060.4:c.1546C>T MANE Select	NP_003051.1:p.Pro516Ser
NM_001308122.2:c.1618C>T	NP_001295051.1:p.Pro540Ser