Canonical Allele Identifier: CA369628099

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142651365G>T (hg19) ; chr7:g.142954278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142954278G>T , CM000669.2:g.142954278G>T	GRCh38
NC_000007.13:g.142651365G>T , CM000669.1:g.142651365G>T	GRCh37
NC_000007.12:g.142361487G>T	NCBI36
NG_007492.1:g.13139C>A
NG_007492.2:g.13139C>A
NG_007492.3:g.13139C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.830C>A MANE Select	ENSP00000347409.2:p.Ser277Tyr
ENST00000355265.6:c.830C>A	ENSP00000347409.2:p.Ser277Tyr
ENST00000479768.6:n.948C>A
NM_000420.2:c.830C>A	NP_000411.1:p.Ser277Tyr
XM_005249993.2:c.866C>A	XP_005250050.1:p.Ser289Tyr
XM_005249994.3:c.-118C>A	XP_005250051.1:n.-118C>A
NM_000420.3:c.830C>A MANE Select	NP_000411.1:p.Ser277Tyr