Canonical Allele Identifier: CA399783528

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42332015C>T (hg19) ; chr17:g.44254647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254647C>T , CM000679.2:g.44254647C>T	GRCh38
NC_000017.10:g.42332015C>T , CM000679.1:g.42332015C>T	GRCh37
NC_000017.9:g.39687541C>T	NCBI36
NG_007498.1:g.18488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1906G>A MANE Select	ENSP00000262418.6:p.Asp636Asn
ENST00000262418.10:c.1906G>A	ENSP00000262418.6:p.Asp636Asn
ENST00000399246.3:c.808G>A	ENSP00000382190.3:p.Asp270Asn
NM_000342.3:c.1906G>A	NP_000333.1:p.Asp636Asn
XM_005257593.3:c.1711G>A	XP_005257650.1:p.Asp571Asn
XM_011525129.1:c.1816G>A	XP_011523431.1:p.Asp606Asn
XM_011525130.1:c.1906G>A	XP_011523432.1:p.Asp636Asn
XM_011525131.1:c.1906G>A	XP_011523433.1:p.Asp636Asn
XM_005257593.5:c.1711G>A	XP_005257650.1:p.Asp571Asn
XM_011525129.2:c.1816G>A	XP_011523431.1:p.Asp606Asn
NM_000342.4:c.1906G>A MANE Select	NP_000333.1:p.Asp636Asn