Canonical Allele Identifier: CA500619693

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42335887G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44258519G>T , CM000679.2:g.44258519G>T	GRCh38
NC_000017.10:g.42335887G>T , CM000679.1:g.42335887G>T	GRCh37
NC_000017.9:g.39691413G>T	NCBI36
NG_007498.1:g.14616C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.981C>A MANE Select	ENSP00000262418.6:p.Pro327=
ENST00000262418.10:c.981C>A	ENSP00000262418.6:p.Pro327=
ENST00000399246.3:c.777+743C>A	ENSP00000382190.3:n.777+743C>A
ENST00000497360.5:n.1120C>A
NM_000342.3:c.981C>A	NP_000333.1:p.Pro327=
XM_005257593.3:c.786C>A	XP_005257650.1:p.Pro262=
XM_011525129.1:c.981C>A	XP_011523431.1:p.Pro327=
XM_011525130.1:c.981C>A	XP_011523432.1:p.Pro327=
XM_011525131.1:c.981C>A	XP_011523433.1:p.Pro327=
XM_005257593.5:c.786C>A	XP_005257650.1:p.Pro262=
XM_011525129.2:c.981C>A	XP_011523431.1:p.Pro327=
NM_000342.4:c.981C>A MANE Select	NP_000333.1:p.Pro327=