Canonical Allele Identifier: CA368841478

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107338495G>T (hg19) ; chr7:g.107698050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698050G>T , CM000669.2:g.107698050G>T	GRCh38
NC_000007.13:g.107338495G>T , CM000669.1:g.107338495G>T	GRCh37
NC_000007.12:g.107125731G>T	NCBI36
NG_008489.1:g.42416G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1553G>T MANE Select	ENSP00000494017.1:p.Trp518Leu
ENST00000644846.1:c.264G>T
ENST00000265715.7:c.1553G>T	ENSP00000265715.3:p.Trp518Leu
ENST00000477350.5:n.400G>T
ENST00000480841.5:n.402G>T
NM_000441.1:c.1553G>T	NP_000432.1:p.Trp518Leu
XM_005250425.1:c.1553G>T	XP_005250482.1:p.Trp518Leu
XM_005250425.2:c.1553G>T	XP_005250482.1:p.Trp518Leu
XM_017012318.1:c.1475G>T	XP_016867807.1:p.Trp492Leu
NM_000441.2:c.1553G>T MANE Select	NP_000432.1:p.Trp518Leu