Canonical Allele Identifier: CA8600115

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253313G>T , CM000679.2:g.44253313G>T	GRCh38
NC_000017.10:g.42330681G>T , CM000679.1:g.42330681G>T	GRCh37
NC_000017.9:g.39686207G>T	NCBI36
NG_007498.1:g.19822C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2116C>A MANE Select	NP_000333.1:p.Leu706Met
ENST00000262418.12:c.2116C>A MANE Select	ENSP00000262418.6:p.Leu706Met
NM_000342.3:c.2116C>A	NP_000333.1:p.Leu706Met
ENST00000262418.10:c.2116C>A	ENSP00000262418.6:p.Leu706Met
ENST00000399246.3:c.1018C>A	ENSP00000382190.3:p.Leu340Met
XM_005257593.3:c.1921C>A	XP_005257650.1:p.Leu641Met
XM_005257593.5:c.1921C>A	XP_005257650.1:p.Leu641Met
XM_011525129.1:c.2026C>A	XP_011523431.1:p.Leu676Met
XM_011525129.2:c.2026C>A	XP_011523431.1:p.Leu676Met
XM_011525130.1:c.2116C>A	XP_011523432.1:p.Leu706Met