Canonical Allele Identifier: CA399782692

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331913G>T (hg19) ; chr17:g.44254545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254545G>T , CM000679.2:g.44254545G>T	GRCh38
NC_000017.10:g.42331913G>T , CM000679.1:g.42331913G>T	GRCh37
NC_000017.9:g.39687439G>T	NCBI36
NG_007498.1:g.18590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2008C>A MANE Select	ENSP00000262418.6:p.Pro670Thr
ENST00000262418.10:c.2008C>A	ENSP00000262418.6:p.Pro670Thr
ENST00000399246.3:c.910C>A	ENSP00000382190.3:p.Pro304Thr
NM_000342.3:c.2008C>A	NP_000333.1:p.Pro670Thr
XM_005257593.3:c.1813C>A	XP_005257650.1:p.Pro605Thr
XM_011525129.1:c.1918C>A	XP_011523431.1:p.Pro640Thr
XM_011525130.1:c.2008C>A	XP_011523432.1:p.Pro670Thr
XM_011525131.1:c.2008C>A	XP_011523433.1:p.Pro670Thr
XM_005257593.5:c.1813C>A	XP_005257650.1:p.Pro605Thr
XM_011525129.2:c.1918C>A	XP_011523431.1:p.Pro640Thr
NM_000342.4:c.2008C>A MANE Select	NP_000333.1:p.Pro670Thr