Canonical Allele Identifier: CA399795194

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42337871G>A (hg19) ; chr17:g.44260503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260503G>A , CM000679.2:g.44260503G>A	GRCh38
NC_000017.10:g.42337871G>A , CM000679.1:g.42337871G>A	GRCh37
NC_000017.9:g.39693397G>A	NCBI36
NG_007498.1:g.12632C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.386C>T MANE Select	ENSP00000262418.6:p.Ala129Val
ENST00000262418.10:c.386C>T	ENSP00000262418.6:p.Ala129Val
ENST00000399246.3:c.386C>T	ENSP00000382190.3:p.Ala129Val
ENST00000471005.5:n.320C>T
ENST00000497360.5:n.525C>T
NM_000342.3:c.386C>T	NP_000333.1:p.Ala129Val
XM_005257593.3:c.191C>T	XP_005257650.1:p.Ala64Val
XM_011525129.1:c.386C>T	XP_011523431.1:p.Ala129Val
XM_011525130.1:c.386C>T	XP_011523432.1:p.Ala129Val
XM_011525131.1:c.386C>T	XP_011523433.1:p.Ala129Val
XM_005257593.5:c.191C>T	XP_005257650.1:p.Ala64Val
XM_011525129.2:c.386C>T	XP_011523431.1:p.Ala129Val
NM_000342.4:c.386C>T MANE Select	NP_000333.1:p.Ala129Val