Canonical Allele Identifier: CA399794428

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42337775T>G (hg19) ; chr17:g.44260407T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260407T>G , CM000679.2:g.44260407T>G	GRCh38
NC_000017.10:g.42337775T>G , CM000679.1:g.42337775T>G	GRCh37
NC_000017.9:g.39693301T>G	NCBI36
NG_007498.1:g.12728A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.482A>C MANE Select	ENSP00000262418.6:p.His161Pro
ENST00000262418.10:c.482A>C	ENSP00000262418.6:p.His161Pro
ENST00000399246.3:c.482A>C	ENSP00000382190.3:p.His161Pro
ENST00000471005.5:n.416A>C
ENST00000497360.5:n.621A>C
NM_000342.3:c.482A>C	NP_000333.1:p.His161Pro
XM_005257593.3:c.287A>C	XP_005257650.1:p.His96Pro
XM_011525129.1:c.482A>C	XP_011523431.1:p.His161Pro
XM_011525130.1:c.482A>C	XP_011523432.1:p.His161Pro
XM_011525131.1:c.482A>C	XP_011523433.1:p.His161Pro
XM_005257593.5:c.287A>C	XP_005257650.1:p.His96Pro
XM_011525129.2:c.482A>C	XP_011523431.1:p.His161Pro
NM_000342.4:c.482A>C MANE Select	NP_000333.1:p.His161Pro