Canonical Allele Identifier: CA4736983

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197848C>T , CM000670.2:g.43197848C>T	GRCh38
NC_000008.10:g.43052991C>T , CM000670.1:g.43052991C>T	GRCh37
NC_000008.9:g.43172148C>T	NCBI36
NG_009552.1:g.62400C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1622C>T MANE Select	NP_689632.2:p.Ser541Leu
ENST00000379644.9:c.1622C>T MANE Select	ENSP00000368965.4:p.Ser541Leu
NM_001363227.1:c.1709C>T	NP_001350156.1:p.Ser570Leu
NM_001363227.2:c.1709C>T	NP_001350156.1:p.Ser570Leu
NM_001363228.1:c.1430C>T	NP_001350157.1:p.Ser477Leu
NM_001363228.2:c.1430C>T	NP_001350157.1:p.Ser477Leu
NM_001363229.1:c.758C>T	NP_001350158.1:p.Ser253Leu
NM_001363229.2:c.758C>T	NP_001350158.1:p.Ser253Leu
NM_152419.2:c.1622C>T	NP_689632.2:p.Ser541Leu
ENST00000379644.8:c.1622C>T	ENSP00000368965.4:p.Ser541Leu
ENST00000519705.1:n.938C>T
ENST00000521576.1:c.773C>T	ENSP00000429029.1:p.Ser258Leu
ENST00000523989.1:n.1935C>T
XM_005273409.1:c.1733C>T	XP_005273466.1:p.Ser578Leu
XM_005273410.1:c.1709C>T	XP_005273467.1:p.Ser570Leu
XM_005273411.1:c.1541C>T	XP_005273468.1:p.Ser514Leu