Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220705G>C , CM000679.2:g.7220705G>C	GRCh38
NC_000017.10:g.7124024G>C , CM000679.1:g.7124024G>C	GRCh37
NC_000017.9:g.7064748G>C	NCBI36
NG_007975.1:g.5872G>C
NG_008391.2:g.4346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.277+29G>C MANE Select	ENSP00000349297.5:n.277+29G>C
ENST00000322910.9:c.*232+29G>C	ENSP00000325395.5:n.*232+29G>C
ENST00000350303.9:c.211+29G>C	ENSP00000344152.5:n.211+29G>C
ENST00000356839.9:c.277+29G>C	ENSP00000349297.5:n.277+29G>C
ENST00000543245.6:c.346+29G>C	ENSP00000438689.2:n.346+29G>C
ENST00000577191.5:n.354+29G>C
ENST00000577433.5:n.485+29G>C
ENST00000577857.5:n.229-61G>C
ENST00000578421.1:n.514G>C
ENST00000579286.5:n.458+29G>C
ENST00000579886.2:c.201+179G>C	ENSP00000463246.1:n.201+179G>C
ENST00000580263.5:n.470G>C
ENST00000581562.5:n.324+29G>C
ENST00000582056.5:n.367+29G>C
ENST00000582166.1:n.165+29G>C
ENST00000582356.5:n.476+29G>C
ENST00000583312.5:c.277+29G>C	ENSP00000467920.1:n.277+29G>C
ENST00000584103.5:c.277+29G>C	ENSP00000465353.1:n.277+29G>C
NM_000018.3:c.277+29G>C	NP_000009.1:n.277+29G>C
NM_001033859.2:c.211+29G>C	NP_001029031.1:n.211+29G>C
NM_001270447.1:c.346+29G>C	NP_001257376.1:n.346+29G>C
NM_001270448.1:c.49+29G>C	NP_001257377.1:n.49+29G>C
XM_006721516.2:c.277+29G>C	XP_006721579.2:n.277+29G>C
XM_011523829.1:c.277+29G>C	XP_011522131.1:n.277+29G>C
XM_011523830.1:c.277+29G>C	XP_011522132.1:n.277+29G>C
XR_934021.1:n.384+29G>C
XR_934022.1:n.384+29G>C
XR_934023.1:n.384+29G>C
XM_006721516.3:c.277+29G>C	XP_006721579.2:n.277+29G>C
XM_011523829.2:c.277+29G>C	XP_011522131.1:n.277+29G>C
XM_011523830.2:c.277+29G>C	XP_011522132.1:n.277+29G>C
XM_024450741.1:c.277+29G>C	XP_024306509.1:n.277+29G>C
XR_934021.2:n.336+29G>C
XR_934022.2:n.336+29G>C
XR_934023.2:n.336+29G>C
NM_000018.4:c.277+29G>C MANE Select	NP_000009.1:n.277+29G>C
NM_001033859.3:c.211+29G>C	NP_001029031.1:n.211+29G>C
NM_001270447.2:c.346+29G>C	NP_001257376.1:n.346+29G>C
NM_001270448.2:c.49+29G>C	NP_001257377.1:n.49+29G>C