Canonical Allele Identifier: CA127373

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44262928C>T , CM000679.2:g.44262928C>T	GRCh38
NC_000017.10:g.42340296C>T , CM000679.1:g.42340296C>T	GRCh37
NC_000017.9:g.39695822C>T	NCBI36
NG_007498.1:g.10207G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.-62G>A MANE Select	NP_000333.1:n.-62G>A
ENST00000262418.12:c.-62G>A MANE Select	ENSP00000262418.6:n.-62G>A
NM_000342.3:c.-62G>A	NP_000333.1:n.-62G>A
ENST00000262418.10:c.-62G>A	ENSP00000262418.6:n.-62G>A
ENST00000399246.3:c.-62G>A	ENSP00000382190.3:n.-62G>A
ENST00000497360.5:n.78G>A
ENST00000498270.1:n.95G>A
XM_011525129.1:c.-62G>A	XP_011523431.1:n.-62G>A
XM_011525129.2:c.-62G>A	XP_011523431.1:n.-62G>A
XM_011525130.1:c.-62G>A	XP_011523432.1:n.-62G>A
XM_011525131.1:c.-62G>A	XP_011523433.1:n.-62G>A