Canonical Allele Identifier: CA8600525

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259576A>G , CM000679.2:g.44259576A>G	GRCh38
NC_000017.10:g.42336944A>G , CM000679.1:g.42336944A>G	GRCh37
NC_000017.9:g.39692470A>G	NCBI36
NG_007498.1:g.13559T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.615T>C MANE Select	NP_000333.1:p.Asp205=
ENST00000262418.12:c.615T>C MANE Select	ENSP00000262418.6:p.Asp205=
NM_000342.3:c.615T>C	NP_000333.1:p.Asp205=
ENST00000262418.10:c.615T>C	ENSP00000262418.6:p.Asp205=
ENST00000399246.3:c.615T>C	ENSP00000382190.3:p.Asp205=
ENST00000497360.5:n.754T>C
XM_005257593.3:c.420T>C	XP_005257650.1:p.Asp140=
XM_005257593.5:c.420T>C	XP_005257650.1:p.Asp140=
XM_011525129.1:c.615T>C	XP_011523431.1:p.Asp205=
XM_011525129.2:c.615T>C	XP_011523431.1:p.Asp205=
XM_011525130.1:c.615T>C	XP_011523432.1:p.Asp205=
XM_011525131.1:c.615T>C	XP_011523433.1:p.Asp205=