Canonical Allele Identifier: CA315644308

Gene: SLC12A5

Linked Data

• dbSNP Id: rs986537897
• gnomAD v3: 20-46055908-A-T
• gnomAD v4: 20-46055908-A-T
• MyVariant Identifiers: chr20:g.44684547A>T (hg19) ; chr20:g.46055908A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46055908A>T , CM000682.2:g.46055908A>T	GRCh38
NC_000020.10:g.44684547A>T , CM000682.1:g.44684547A>T	GRCh37
NC_000020.9:g.44117954A>T	NCBI36
NG_046341.1:g.39219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-242A>T MANE Select	ENSP00000243964.4:n.2788-242A>T
ENST00000243964.6:c.2788-242A>T	ENSP00000243964.3:n.2788-242A>T
ENST00000454036.6:c.2857-242A>T	ENSP00000387694.1:n.2857-242A>T
ENST00000616201.4:c.1298-2748A>T	ENSP00000484585.1:n.1298-2748A>T
ENST00000616202.4:c.613-2573A>T	ENSP00000478369.1:n.613-2573A>T
ENST00000616933.4:c.*2106-242A>T	ENSP00000477569.1:n.*2106-242A>T
ENST00000626937.2:c.510-3691A>T	ENSP00000485953.1:n.510-3691A>T
ENST00000628413.1:n.62A>T
NM_001134771.1:c.2857-242A>T	NP_001128243.1:n.2857-242A>T
NM_020708.4:c.2788-242A>T	NP_065759.1:n.2788-242A>T
XM_017027981.1:c.2857-242A>T	XP_016883470.1:n.2857-242A>T
NM_001134771.2:c.2857-242A>T	NP_001128243.1:n.2857-242A>T
NM_020708.5:c.2788-242A>T MANE Select	NP_065759.1:n.2788-242A>T