Canonical Allele Identifier: CA338184863

Gene: CA6

Linked Data

• MyVariant Identifiers: chr1:g.9017307C>T (hg19) ; chr1:g.8957248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957248C>T , CM000663.2:g.8957248C>T	GRCh38
NC_000001.10:g.9017307C>T , CM000663.1:g.9017307C>T	GRCh37
NC_000001.9:g.8939894C>T	NCBI36
NG_033975.1:g.16415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.371C>T MANE Select	ENSP00000366662.2:p.Ser124Phe
ENST00000377436.6:c.371C>T	ENSP00000366654.3:p.Ser124Phe
ENST00000377442.3:c.191C>T	ENSP00000366661.2:p.Ser64Phe
ENST00000377443.6:c.371C>T	ENSP00000366662.2:p.Ser124Phe
ENST00000476083.1:n.99-1662C>T
ENST00000549778.5:c.275C>T	ENSP00000447108.1:p.Ser92Phe
NM_001215.3:c.371C>T	NP_001206.2:p.Ser124Phe
NM_001270500.1:c.371C>T	NP_001257429.1:p.Ser124Phe
NM_001270501.1:c.191C>T	NP_001257430.1:p.Ser64Phe
NM_001270502.1:c.25-1662C>T	NP_001257431.1:n.25-1662C>T
XM_011542083.1:c.383C>T	XP_011540385.1:p.Ser128Phe
XM_011542084.1:c.383C>T	XP_011540386.1:p.Ser128Phe
XM_011542083.3:c.383C>T	XP_011540385.1:p.Ser128Phe
XM_011542084.3:c.383C>T	XP_011540386.1:p.Ser128Phe
NM_001215.4:c.371C>T MANE Select	NP_001206.2:p.Ser124Phe
NM_001270500.2:c.371C>T	NP_001257429.1:p.Ser124Phe
NM_001270501.2:c.191C>T	NP_001257430.1:p.Ser64Phe
NM_001270502.2:c.25-1662C>T	NP_001257431.1:n.25-1662C>T