Canonical Allele Identifier: CA8600736

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44262650A>G , CM000679.2:g.44262650A>G	GRCh38
NC_000017.10:g.42340018A>G , CM000679.1:g.42340018A>G	GRCh37
NC_000017.9:g.39695544A>G	NCBI36
NG_007498.1:g.10485T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.92T>C MANE Select	NP_000333.1:p.Met31Thr
ENST00000262418.12:c.92T>C MANE Select	ENSP00000262418.6:p.Met31Thr
NM_000342.3:c.92T>C	NP_000333.1:p.Met31Thr
ENST00000262418.10:c.92T>C	ENSP00000262418.6:p.Met31Thr
ENST00000399246.3:c.92T>C	ENSP00000382190.3:p.Met31Thr
ENST00000497360.5:n.231T>C
ENST00000498270.1:n.373T>C
XM_011525129.1:c.92T>C	XP_011523431.1:p.Met31Thr
XM_011525129.2:c.92T>C	XP_011523431.1:p.Met31Thr
XM_011525130.1:c.92T>C	XP_011523432.1:p.Met31Thr
XM_011525131.1:c.92T>C	XP_011523433.1:p.Met31Thr